Homozygosity for the c. 428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome

S Pauli, J Altmüller, S Schröder… - Journal of Medical …, 2019 - jmg.bmj.com
Background Joubert syndrome (JBTS) is a rare neurodevelopmental disorder with marked
phenotypic variability and genetic heterogeneity. Homozygous or compound heterozygous …
被引用次数：18 相关文章

Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome.

S Pauli, J Altmüller, S Schröder… - Journal of Medical …, 2018 - europepmc.org
Background Joubert syndrome (JBTS) is a rare neurodevelopmental disorder with marked
phenotypic variability and genetic heterogeneity. Homozygous or compound heterozygous …

Homozygosity for the c. 428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome

S Pauli, J Altmüller, S Schröder… - Journal of Medical …, 2019 - search.proquest.com
Background Joubert syndrome (JBTS) is a rare neurodevelopmental disorder with marked
phenotypic variability and genetic heterogeneity. Homozygous or compound heterozygous …

Homozygosity for the c. 428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome

S Pauli, J Altmüller, S Schröder… - Journal of Medical …, 2018 - jmg.bmj.com
Background Joubert syndrome (JBTS) is a rare neurodevelopmental disorder with marked
phenotypic variability and genetic heterogeneity. Homozygous or compound heterozygous …

Homozygosity for the c. 428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome

S Pauli, J Altmueller, S Schroeder… - J. Med …, 2019 - kups.ub.uni-koeln.de
Background Joubert syndrome (JBTS) is a rare neurodevelopmental disorder with marked
phenotypic variability and genetic heterogeneity. Homozygous or compound heterozygous …

[引用][C] Homozygosity for the c. 428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome

S Pauli, J Altmüller, S Schröder, A Ohlenbusch… - 2019 - publications.goettingen-research …

Homozygosity for the c. 428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome

S Pauli, J Altmüller, S Schröder… - Journal of medical …, 2019 - pubmed.ncbi.nlm.nih.gov
Background Joubert syndrome (JBTS) is a rare neurodevelopmental disorder with marked
phenotypic variability and genetic heterogeneity. Homozygous or compound heterozygous …

Homozygosity for the c. 428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome

S Pauli, J Altmüller, S Schröder… - Journal of Medical …, 2019 - edoc.mdc-berlin.de
BACKGROUND: Joubert syndrome (JBTS) is a rare neurodevelopmental disorder with
marked phenotypic variability and genetic heterogeneity. Homozygous or compound …

Homozygosity for the c. 428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome

S Pauli, J Altmueller, S Schroeder… - J. Med …, 2019 - kups.ub.uni-koeln.de
Background Joubert syndrome (JBTS) is a rare neurodevelopmental disorder with marked
phenotypic variability and genetic heterogeneity. Homozygous or compound heterozygous …

Homozygosity for the c. 428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome

S Pauli, J Altmüller, S Schröder… - Journal of Medical …, 2019 - edoc.mdc-berlin.de
BACKGROUND: Joubert syndrome (JBTS) is a rare neurodevelopmental disorder with
marked phenotypic variability and genetic heterogeneity. Homozygous or compound …